Article

Genetic and clinical profiles in a large cohort of Chinese individuals with spinocerebellar ataxia type 1

2022-07-13

Abstract excerpt

<h4>Background: </h4> Spinocerebellar ataxia type 1 (SCA1) is the third most common type of spinocerebellar ataxia in China. However, data about Chinese SCA1 patients are limited. This study aims to provide a detailed description of the phenotype and genotype of Chinese SCA1 individuals and guide the clinical practice. Methods A total of 110 SCA1 individuals from 79 pedigrees and 123 unrelated normal controls wer...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 85e6424f-322a-5891-8085-00dc58665922
DOI: 10.21203/rs.3.rs-1841026/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic and clinical profiles in a large cohort of Chinese individuals with spinocerebellar ataxia type 1DOI 10.21203/rs.3.rs-1841026/v1Read

Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families.Semantic proximity Read

CAT Interruption as a Protective Factor in Chinese Patients with Spinocerebellar Ataxia Type 1.Semantic proximity Read

Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.Semantic proximity Read

Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management.Semantic proximity Read

Spinocerebellar Ataxia Type 28 in a Chinese Pedigree: A Case Report and Literature ReviewSemantic proximity Read

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1Semantic proximity Read

Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.Semantic proximity Read

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.Semantic proximity Read

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype–Phenotype AnalysisSemantic proximity Read

Spinocerebellar ataxia type 2 has multiple ancestral origins.Semantic proximity Read

Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias.Semantic proximity Read

Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.Semantic proximity Read